title: Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
abstract: Chromosome 7q36 microdeletion syndrome is a rare genomic disorder characterized by underdevelopment of the brain, microcephaly, anomalies of the sex organs, and language problems. Developmental delay, intellectual disability, autistic spectrum disorders, BDMR syndrome, and unusual facial morphology are the key features of the chromosome 2q37 microdeletion syndrome. A genetic screening for two brothers with global developmental delay using high-resolution chromosomal analysis and subtelomeric multiplex ligation-dependent probe amplification revealed subtelomeric rearrangements on the same sites of 2q37.2 and 7q35, with reversed deletion and duplication. Both of them showed dysmorphic facial features, severe disability of physical and intellectual development, and abnormal genitalia with differential abnormalities in their phenotypes. The family did not have abnormal genetic phenotypes. According to the genetic analysis of their parents, adjacent-1 segregation from their mother's was suggested as a mechanism of their gene mutation. By comparing the phenotypes of our patients with previous reports on similar patients, we tried to obtain the information of related genes and their chromosomal locations.
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Republic of Korea; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Republic of Korea.
authors.forename: Sung Han
authors.initials: SH
authors.lastname: Shim
authors.forename: Jae Sun
authors.initials: JS
authors.lastname: Shim
authors.forename: Kyunghoon
authors.initials: K
authors.lastname: Min
authors.forename: Hee Song
authors.initials: HS
authors.lastname: Lee
authors.forename: Ji Eun
authors.initials: JE
authors.lastname: Park
authors.forename: Sang Hee
authors.initials: SH
authors.lastname: Park
authors.forename: Euna
authors.initials: E
authors.lastname: Hwang
authors.forename: Minyoung
authors.initials: M
authors.lastname: Kim
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D010641:Phenotype; D035781:Siblings; D013577:Syndrome
keywords: 2q37.2; 7q36; AHO; ASD; Albright hereditary osteodystrophy; Autism; BDMR; CGH; CNTNAP2; Chromosomal abnormality; DNA; FARP2; FERM, RhoGEF and pleckstrin domain protein 2; FISH; G protein-coupled receptor 35; GDD; GPC1; GPR35; GTG; Global developmental delay; HDAC4; ID; IQ; Intellectual disability; MLPA; MNX1; NRF; National Research Foundation of Korea; PDC1; SHH; STK25; Serine/threonine-protein kinase 25; Sonic Hedgehog gene; VIPR2; WD repeat domain 60; WDR60; autistic spectrum disorder; brachydactyly mental retardation syndrome; comparative genomic hybridization; contactin associated protein-like 2; deoxyribonucleic acid; der; derivative chromosome; fluorescent in situ hybridization; global developmental delay; glypican1; guanine thymine guanine; histone deacetylase 4; intellectual disability; intelligence quotient; mat; maternal origin; motor neuron and pancreas homeobox 1; multiplex ligation dependent probe amplification; pyruvate decarboxylase 1; vasoactive intestinal peptide receptor 2